Abstract:
BACKGROUND AND OBJECTIVES:An Australian Caucasian blood donor consistently presented a serology profile for the Duffy blood group as Fy(a+b+) with Fy(a) antigen expression weaker than other examples of Fy(a+b+) red cells. Molecular typing studies were performed to investigate the reason for the observed serology profile. MATERIAL AND METHODS:Blood group genotyping was performed using a commercial SNP microarray platform. Sanger sequencing was performed using primer sets to amplify across exons 1 and 2 of the FY gene and using allele-specific primers. RESULTS:The propositus was genotyped as FY*A/B, FY*X heterozygote that predicted the Fy(a+b+(w) ) phenotype. Sequencing identified the 265T and 298A variants on the FY*A allele. This link between FY*A allele and 265T was confirmed by allele-specific PCR. CONCLUSION:The reduced Fy(a) antigen reactivity is attributed to a FY*A allele-carrying 265T and 298A variants previously defined in combination only with the FY*B allele and associated with weak Fy(b) antigen expression. This novel allele should be considered in genotyping interpretative algorithms for generating a predicted phenotype.
journal_name
Vox Sangjournal_title
Vox sanguinisauthors
Lopez GH,Condon JA,Wilson B,Martin JR,Liew YW,Flower RL,Hyland CAdoi
10.1111/vox.12185subject
Has Abstractpub_date
2015-01-01 00:00:00pages
52-7issue
1eissn
0042-9007issn
1423-0410journal_volume
108pub_type
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